Growing Concerned

Learn More About Glut1 DSWe welcomed Briggs into our family in March of 2008. Briggs was diagnosed with a rare genetic disorder Glut1 DS in June of 2012. He had one older sister and 2 older brothers that adored him!! He was an easy, happy, fun loving baby!! He had the ability to make everyone smile and put them at ease. He was the baby of the family and we carried him, we talked for him, we didn’t push him to grow up. Briggs didn’t hit a few of his developmental milestones and we started to get concerned when he was 14 months old. We started therapies, and saw some improvement, but not much. Briggs started to have noticeable seizures at about 22 months, although I am certain he was having them and we didn’t even notice it.

Finding a Diagnosis

The next two years were very difficult for our family and especially Briggs. We did numerous genetic tests, EEG’s, anti-seizure medications, saw numerous doctors, blood tests among others, with no diagnosis or explanation of why the seizures, why the delay. At one point, one of Briggs’ doctors asked us to keep a seizure journal with the end result being anywhere between forty to hundreds of seizures in ONE day. Briggs was having over 4 different types of seizures and they would rob him of his personality, among other physical and mental capabilities. He would sleep for over 12 hours straight, wake up eat and go back to sleep. We cherished every day, every good and bad moment because they would change so drastically. We knew that tomorrow’s challenges could be easier and some would be harder, so we enjoyed each day as they came. This time was very difficult and very happy at the same time. Briggs has always, even on the rough days, had the ability to make everyone around him happy. He has an amazing talent to draw out the laughter and smiles in others.

Gaining Strength

In June of 2012 we started Briggs on the Ketogenic Diet as a treatment therapy, while we waited for test results for Glut1 DS. Glut1 DS is a rare, genetic disorder in which the transporter that carries glucose (sugar) from the blood to the brain is depleted/missing which starves the brain of the glucose it needs. While we waited for test results we started the diet, within 24 hours after starting the diet we were seizure FREE. Over the next few weeks our little boy came back to us. It was like watching a flower bloom. His balance, his speech, the brightness and sparkle in his eyes, his laughter had all returned and started to improve. It was amazing to watch Briggs really truly be the boy that he was meant to be. He was “present and alert”, and radiated more love and happiness than he did before. Just two months later, in early August of 2012 the test result came back with a positive for the GLUT1 DS genetic disorder.

Living Life to the Fullest

Briggs loves to be outside, play baseball, ride ATV’s, jump on the tramp, swim, school, and race. He has been seizure free for over 3 years. The development, speech, balance and fine/gross motor that has improved over these last three years is remarkable. We recently had a family vacation and in one day hiked and walked around the 5 mile mark. He never complained and walked the whole thing by himself. He has come so far and reached so many goals we never thought possible.

Glut1 Deficiency Syndrome (Glut1 DS)

Glut1 deficiency syndrome (Glut1 DS) is a genetic disorder that prevents an adequate amount of glucose from getting to the brain. The body moves glucose into the brain through a ‘vehicle’ called the Glut1 transporter, which does not function properly in people with Glut1 DS, leaving the brain starving for energy.

As a result, people with Glut1 DS may experience seizures, delays in speaking, motor problems (difficulty walking, coordinating movement, balance, etc.) and learning difficulties.

Glut1 DS affects between 3,000 and 7,000 people in the U.S.

Ultragenyx is studying investigational UX007 (triheptanoin), a purified form of a specially designed synthetic triglyceride compound, as a potential treatment option for Glut1 DS.

Other names for Glut1 DS:

  • Glucose transporter type 1 deficiency syndrome
  • DeVivo Disease

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan.